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Protein

Aryl hydrocarbon receptor nuclear translocator-like protein 1

Gene

ARNTL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. ARNTL/BMAL1 positively regulates myogenesis and negatively regulates adipogenesis via the transcriptional control of the genes of the canonical Wnt signaling pathway. Plays a role in normal pancreatic beta-cell function; regulates glucose-stimulated insulin secretion via the regulation of antioxidant genes NFE2L2/NRF2 and its targets SESN2, PRDX3, CCLC and CCLM. Negatively regulates the mTORC1 signaling pathway; regulates the expression of MTOR and DEPTOR. Controls diurnal oscillations of Ly6C inflammatory monocytes; rhythmic recruitment of the PRC2 complex imparts diurnal variation to chemokine expression that is necessary to sustain Ly6C monocyte rhythms. Regulates the expression of HSD3B2, STAR, PTGS2, CYP11A1, CYP19A1 and LHCGR in the ovary and also the genes involved in hair growth. Plays an important role in adult hippocampal neurogenesis by regulating the timely entry of neural stem/progenitor cells (NSPCs) into the cell cycle and the number of cell divisions that take place prior to cell-cycle exit. Regulates the circadian expression of CIART and KLF11. The CLOCK-ARNTL/BMAL1 heterodimer regulates the circadian expression of SERPINE1/PAI1, VWF, B3, CCRN4L/NOC, NAMPT, DBP, MYOD1, PPARGC1A, PPARGC1B, SIRT1, GYS2, F7, NGFR, GNRHR, BHLHE40/DEC1, ATF4, MTA1, KLF10 and also genes implicated in glucose and lipid metabolism. Promotes rhythmic chromatin opening, regulating the DNA accessibility of other transcription factors. The NPAS2-ARNTL/BMAL1 heterodimer positively regulates the expression of MAOA, F7 and LDHA and modulates the circadian rhythm of daytime contrast sensitivity by regulating the rhythmic expression of adenylate cyclase type 1 (ADCY1) in the retina. The preferred binding motif for the CLOCK-ARNTL/BMAL1 heterodimer is 5'-CACGTGA-3', which contains a flanking Ala residue in addition to the canonical 6-nucleotide E-box sequence (PubMed:23229515). CLOCK specifically binds to the half-site 5'-CAC-3', while ARNTL binds to the half-site 5'-GTGA-3' (PubMed:23229515). The CLOCK-ARNTL/BMAL1 heterodimer also recognizes the non-canonical E-box motifs 5'-AACGTGA-3' and 5'-CATGTGA-3' (PubMed:23229515). Essential for the rhythmic interaction of CLOCK with ASS1 and plays a critical role in positively regulating CLOCK-mediated acetylation of ASS1 (PubMed:28985504).7 Publications

Miscellaneous

CLOCK-ARNTL/BMAL1 double mutations within the PAS domains result in synergistic desensitization to high levels of CRY on repression of CLOCK-ARNTL/BMAL1 transcriptional activity of PER1 and, disrupt circadian rhythmicity.

Activity regulationi

There is conflicting data about the effect of NAD cofactors on activity. PubMed:11441146 suggests that the redox state of the cell can modulate the transcriptional activity of the CLOCK-ARNTL/BMAL1 heterodimer; NADH and NADPH enhance the DNA-binding activity of the heterodimer. PubMed:23229515 reports that NADH and NADPH have no significant effect on DNA-binding activity of the CLOCK-ARNTL/BMAL1 heterodimer.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei125Important for interaction with CLOCK1 Publication1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processBiological rhythms, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-1368108 BMAL1:CLOCK,NPAS2 activates circadian gene expression
R-HSA-1989781 PPARA activates gene expression
R-HSA-400253 Circadian Clock
SIGNORiO00327

Names & Taxonomyi

Protein namesi
Recommended name:
Aryl hydrocarbon receptor nuclear translocator-like protein 1
Alternative name(s):
Basic-helix-loop-helix-PAS protein MOP3
Brain and muscle ARNT-like 1
Class E basic helix-loop-helix protein 5
Short name:
bHLHe5
Member of PAS protein 3
PAS domain-containing protein 3
bHLH-PAS protein JAP3
Gene namesi
Name:ARNTL
Synonyms:BHLHE5, BMAL1, MOP3, PASD3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000133794.17
HGNCiHGNC:701 ARNTL
MIMi602550 gene
neXtProtiNX_O00327

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi9S → A or E: Enhanced PER1 reporter activity by CLOCK-ARNTL/BMAL1. 1 Publication1
Mutagenesisi9S → F: 2-2.5-fold increase in CLOCK-BMAL1 transcriptional activity in the absence of CRY1. No change in repression activity in the presence of CRY1. 1 Publication1
Mutagenesisi10S → A or E: Enhanced PER1 reporter activity by CLOCK-ARNTL/BMAL1. 1 Publication1
Mutagenesisi10S → L: 2-2.5-fold increase in CLOCK-ARNTL/BMAL1 transcriptional activity in the absence of CRY1. No change in repression activity in the presence of CRY1. 1 Publication1
Mutagenesisi78S → E: Phosphomimetic mutant which severely impairs DNA binding and CLOCK-ARNTL/BMAL1 transcriptional activity. 1 Publication1
Mutagenesisi88M → F: No effect on CLOCK binding. 1 Publication1
Mutagenesisi90S → E: Phosphomimetic mutant with no effect on DNA binding or CLOCK-ARNTL/BMAL1 transcriptional activity. 1 Publication1
Mutagenesisi125L → H: Impaired CLOCK binding. 1 Publication1
Mutagenesisi611A → S or T: Increased desensitization to CRY1, in the presence of CLOCK. Approximately 2-fold increase in CLOCK-ARNTL/BMAL1 transcriptional activity in the absence of CRY1; when associated with E-407. 1 Publication1
Mutagenesisi612G → E: Increased desensitization to CRY1, in the presence of CLOCK. Approximately 2-fold increase in CLOCK-ARNTL/BMAL1 transcriptional activity in the absence of CRY1. 1 Publication1

Organism-specific databases

DisGeNETi406
OpenTargetsiENSG00000133794
PharmGKBiPA24996

Polymorphism and mutation databases

BioMutaiARNTL

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001271561 – 626Aryl hydrocarbon receptor nuclear translocator-like protein 1Add BLAST626

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei17Phosphoserine; by GSK3-betaBy similarity1
Modified residuei21Phosphothreonine; by GSK3-betaBy similarity1
Modified residuei78Phosphoserine1 Publication1
Modified residuei90Phosphoserine; by CK2By similarity1
Cross-linki252Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2 and SUMO3)By similarity
Cross-linki259Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei538N6-acetyllysineBy similarity1

Post-translational modificationi

Ubiquitinated, leading to its proteasomal degradation.By similarity
O-glycosylated; contains O-GlcNAc. O-glycosylation by OGT prevents protein degradation by inhibiting ubiquitination. It also stabilizes the CLOCK-ARNTL/BMAL1 heterodimer thereby increasing CLOCK-ARNTL/BMAL1-mediated transcription of genes in the negative loop of the circadian clock such as PER1/2/3 and CRY1/2.By similarity
Acetylated on Lys-538 upon dimerization with CLOCK. Acetylation facilitates CRY1-mediated repression. Deacetylated by SIRT1, which may result in decreased protein stability.By similarity
Phosphorylated upon dimerization with CLOCK. Phosphorylation enhances the transcriptional activity, alters the subcellular localization and decreases the stability of the CLOCK-ARNTL/BMAL1 heterodimer by promoting its degradation. Phosphorylation shows circadian variations in the liver with a peak between CT10 to CT14. Phosphorylation at Ser-90 by CK2 is essential for its nuclear localization, its interaction with CLOCK and controls CLOCK nuclear entry (By similarity). Dephosphorylation at Ser-78 is important for dimerization with CLOCK and transcriptional activity (PubMed:23229515).By similarity1 Publication
Sumoylated on Lys-259 upon dimerization with CLOCK. Predominantly conjugated to poly-SUMO2/3 rather than SUMO1 and the level of these conjugates undergo rhythmic variation, peaking at CT9-CT12. Sumoylation localizes it exclusively to the PML body and promotes its ubiquitination in the PML body, ubiquitin-dependent proteasomal degradation and the transcriptional activity of the CLOCK-ARNTL/BMAL1 heterodimer.By similarity

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiO00327
PeptideAtlasiO00327
PRIDEiO00327
ProteomicsDBi47841
47842 [O00327-1]
47843 [O00327-3]
47844 [O00327-4]
47845 [O00327-5]
47846 [O00327-6]
47847 [O00327-7]
47848 [O00327-8]
47849 [O00327-9]

PTM databases

iPTMnetiO00327
PhosphoSitePlusiO00327

Expressioni

Tissue specificityi

Hair follicles (at protein level). Highly expressed in the adult brain, skeletal muscle and heart.1 Publication

Gene expression databases

BgeeiENSG00000133794 Expressed in 217 organ(s), highest expression level in left lobe of thyroid gland
ExpressionAtlasiO00327 baseline and differential
GenevisibleiO00327 HS

Organism-specific databases

HPAiCAB045962
HPA050938

Interactioni

Subunit structurei

Component of the circadian clock oscillator which includes the CRY1/2 proteins, CLOCK or NPAS2, ARNTL/BMAL1 or ARNTL2/BMAL2, CSNK1D and/or CSNK1E, TIMELESS and the PER1/2/3 proteins (By similarity). Forms a heterodimer with CLOCK (PubMed:9616112, PubMed:23229515). The CLOCK-ARNTL/BMAL1 heterodimer is required for E-box-dependent transactivation, for CLOCK nuclear translocation and degradation, and, for phosphorylation of both CLOCK and ARNTL/BMAL1 (By similarity). Part of a nuclear complex which also includes RACK1 and PRKCA; RACK1 and PRKCA are recruited to the complex in a circadian manner (By similarity). Interacts with NPAS2 (By similarity). Interacts with EZH2 (By similarity). Interacts with SUMO3 (By similarity). Interacts with SIRT1 (By similarity). Interacts with AHR (PubMed:9079689). Interacts with ID1, ID2 and ID3 (By similarity). Interacts with DDX4 (By similarity). Interacts with OGT (By similarity). Interacts with EED and SUZ12 (By similarity). Interacts with MTA1 (By similarity). Interacts with CIART (PubMed:24385426). Interacts with HSP90 (PubMed:9079689). Interacts with KAT2B and EP300 (PubMed:14645221). Interacts with BHLHE40/DEC1 and BHLHE41/DEC2 (By similarity). Interacts with RELB and the interaction is enhanced in the presence of CLOCK (By similarity). Interacts with PER1, PER2, CRY1 and CRY2 and this interaction requires a translocation to the nucleus (By similarity). Interaction of the CLOCK-ARNTL/BMAL1 heterodimer with PER or CRY inhibits transcription activation (By similarity). Interaction of the CLOCK-ARNTL/BMAL1 with CRY1 is independent of DNA but with PER2 is off DNA (By similarity). The CLOCK-ARNTL/BMAL1 heterodimer interacts with GSK3B (By similarity). Interacts with KDM5A (PubMed:21960634). Interacts with KMT2A; in a circadian manner (By similarity). Interacts with UBE3A (PubMed:24728990). Interacts with PRKCG (By similarity). Interacts with MAGEL2 (By similarity). Interacts with NCOA2 (By similarity). Interacts with THRAP3 (By similarity). The CLOCK-ARNTL/BMAL1 heterodimer interacts with PASD1 (PubMed:25936801). Interacts with PASD1 (PubMed:25936801).By similarity9 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei77Interaction with E-box DNA1 Publication1
Sitei80Interaction with E-box DNA1 Publication1
Sitei81Interaction with E-box DNA1 Publication1
Sitei85Interaction with E-box DNA1 Publication1

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106899, 61 interactors
ComplexPortaliCPX-3229 CLOCK-BMAL1 transcription complex
DIPiDIP-46008N
IntActiO00327, 13 interactors
MINTiO00327
STRINGi9606.ENSP00000374357

Structurei

Secondary structure

1626
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO00327
SMRiO00327
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini72 – 125bHLHPROSITE-ProRule annotationAdd BLAST54
Domaini143 – 215PAS 1PROSITE-ProRule annotationAdd BLAST73
Domaini326 – 396PAS 2PROSITE-ProRule annotationAdd BLAST71
Domaini401 – 444PACAdd BLAST44

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni508 – 588Interaction with CIARTBy similarityAdd BLAST81

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi36 – 41Nuclear localization signalBy similarity6
Motifi142 – 152Nuclear export signal 1By similarityAdd BLAST11
Motifi361 – 369Nuclear export signal 2By similarity9

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3561 Eukaryota
ENOG410XRJI LUCA
GeneTreeiENSGT00760000118788
HOGENOMiHOG000234379
HOVERGENiHBG107503
InParanoidiO00327
KOiK02296
OMAiEKINTNC
OrthoDBiEOG091G126J
PhylomeDBiO00327
TreeFamiTF319983

Family and domain databases

CDDicd00083 HLH, 1 hit
cd00130 PAS, 2 hits
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR001067 Nuc_translocat
IPR001610 PAC
IPR000014 PAS
IPR035965 PAS-like_dom_sf
IPR013767 PAS_fold
PfamiView protein in Pfam
PF00010 HLH, 1 hit
PF00989 PAS, 1 hit
PRINTSiPR00785 NCTRNSLOCATR
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SM00086 PAC, 1 hit
SM00091 PAS, 2 hits
SUPFAMiSSF47459 SSF47459, 1 hit
SSF55785 SSF55785, 3 hits
TIGRFAMsiTIGR00229 sensory_box, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS50112 PAS, 2 hits

Sequences (9+)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 9 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform BMAL1B (identifier: O00327-2) [UniParc]FASTAAdd to basket
Also known as: JAP3

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MADQRMDISS TISDFMSPGP TDLLSSSLGT SGVDCNRKRK GSSTDYQESM
60 70 80 90 100
DTDKDDPHGR LEYTEHQGRI KNAREAHSQI EKRRRDKMNS FIDELASLVP
110 120 130 140 150
TCNAMSRKLD KLTVLRMAVQ HMKTLRGATN PYTEANYKPT FLSDDELKHL
160 170 180 190 200
ILRAADGFLF VVGCDRGKIL FVSESVFKIL NYSQNDLIGQ SLFDYLHPKD
210 220 230 240 250
IAKVKEQLSS SDTAPRERLI DAKTGLPVKT DITPGPSRLC SGARRSFFCR
260 270 280 290 300
MKCNRPSVKV EDKDFPSTCS KKKADRKSFC TIHSTGYLKS WPPTKMGLDE
310 320 330 340 350
DNEPDNEGCN LSCLVAIGRL HSHVVPQPVN GEIRVKSMEY VSRHAIDGKF
360 370 380 390 400
VFVDQRATAI LAYLPQELLG TSCYEYFHQD DIGHLAECHR QVLQTREKIT
410 420 430 440 450
TNCYKFKIKD GSFITLRSRW FSFMNPWTKE VEYIVSTNTV VLANVLEGGD
460 470 480 490 500
PTFPQLTASP HSMDSMLPSG EGGPKRTHPT VPGIPGGTRA GAGKIGRMIA
510 520 530 540 550
EEIMEIHRIR GSSPSSCGSS PLNITSTPPP DASSPGGKKI LNGGTPDIPS
560 570 580 590 600
SGLLSGQAQE NPGYPYSDSS SILGENPHIG IDMIDNDQGS SSPSNDEAAM
610 620
AVIMSLLEAD AGLGGPVDFS DLPWPL
Length:626
Mass (Da):68,762
Last modified:August 15, 2003 - v2
Checksum:i820F0E07DC6265A6
GO
Isoform BMAL1A (identifier: O00327-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-47: MADQRMDISSTISDFMSPGPTDLLSSSLGTSGVDCNRKRKGSSTDYQ → MINI

Show »
Length:583
Mass (Da):64,207
Checksum:i2AA8E7EEB4A71119
GO
Isoform BMAL1C (identifier: O00327-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     224-224: T → R
     225-626: Missing.

Show »
Length:224
Mass (Da):25,353
Checksum:i0A0580AEDC5A45A0
GO
Isoform BMAL1D (identifier: O00327-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     274-391: Missing.

Show »
Length:508
Mass (Da):55,462
Checksum:i5FAB2403FD8AAB32
GO
Isoform BMAL1E (identifier: O00327-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     278-301: SFCTIHSTGYLKSWPPTKMGLDED → AFCTIHSTGYFGIFTTRTSRHIVL
     302-626: Missing.

Show »
Length:301
Mass (Da):33,922
Checksum:iEC942D8A9C9219B3
GO
Isoform BMAL1F (identifier: O00327-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     443-526: ANVLEGGDPT...CGSSPLNITS → SRVDTGHLGQ...QGEPGLGQEK
     527-626: Missing.

Show »
Length:526
Mass (Da):59,242
Checksum:iED01AF63A26CE4E0
GO
Isoform MOP3 (identifier: O00327-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-59: MADQRMDISS...MDTDKDDPHG → MSKEAVSLWA...CFYLLLFPPP

Show »
Length:624
Mass (Da):68,828
Checksum:i7A3FD8FAE5E496D7
GO
Isoform 8 (identifier: O00327-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     274-274: Missing.

Show »
Length:625
Mass (Da):68,691
Checksum:i3F3F7D5688A6FFE2
GO
Isoform 9 (identifier: O00327-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-47: MADQRMDISSTISDFMSPGPTDLLSSSLGTSGVDCNRKRKGSSTDYQ → MINI
     274-274: Missing.

Show »
Length:582
Mass (Da):64,136
Checksum:iE8D6943E4DD24037
GO

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PKF0E9PKF0_HUMAN
Aryl hydrocarbon receptor nuclear t...
ARNTL
135Annotation score:
E9PPV4E9PPV4_HUMAN
Aryl hydrocarbon receptor nuclear t...
ARNTL
141Annotation score:
E9PI92E9PI92_HUMAN
Aryl hydrocarbon receptor nuclear t...
ARNTL
72Annotation score:
E9PL54E9PL54_HUMAN
Aryl hydrocarbon receptor nuclear t...
ARNTL
100Annotation score:
E9PRB1E9PRB1_HUMAN
Aryl hydrocarbon receptor nuclear t...
ARNTL
46Annotation score:
H0YER9H0YER9_HUMAN
Aryl hydrocarbon receptor nuclear t...
ARNTL
171Annotation score:
E9PKN1E9PKN1_HUMAN
Aryl hydrocarbon receptor nuclear t...
ARNTL
59Annotation score:
E9PKG7E9PKG7_HUMAN
Aryl hydrocarbon receptor nuclear t...
ARNTL
76Annotation score:
E9PSD2E9PSD2_HUMAN
Aryl hydrocarbon receptor nuclear t...
ARNTL
23Annotation score:
E9PNI4E9PNI4_HUMAN
Aryl hydrocarbon receptor nuclear t...
ARNTL
60Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti69R → G in AAC51213 (PubMed:9079689).Curated1
Sequence conflicti123K → R in BAA19935 (PubMed:9144434).Curated1
Sequence conflicti173S → P in BAA19939 (PubMed:9144434).Curated1
Sequence conflicti259K → N in BAA19938 (PubMed:9144434).Curated1
Sequence conflicti264D → N in BAA19938 (PubMed:9144434).Curated1
Sequence conflicti418S → N in BAA19937 (PubMed:9144434).Curated1
Sequence conflicti513 – 514SP → LR in AAC51213 (PubMed:9079689).Curated2

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0020951 – 59MADQR…DDPHG → MSKEAVSLWALTVSLQPPVP LCVCREMTGSGRRKQQCVTL PFISRELCFYLLLFPPP in isoform MOP3. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_0020941 – 47MADQR…STDYQ → MINI in isoform BMAL1A and isoform 9. 2 PublicationsAdd BLAST47
Alternative sequenceiVSP_002096224T → R in isoform BMAL1C. Curated1
Alternative sequenceiVSP_002097225 – 626Missing in isoform BMAL1C. CuratedAdd BLAST402
Alternative sequenceiVSP_002098274 – 391Missing in isoform BMAL1D. CuratedAdd BLAST118
Alternative sequenceiVSP_035457274Missing in isoform 8 and isoform 9. 2 Publications1
Alternative sequenceiVSP_002099278 – 301SFCTI…GLDED → AFCTIHSTGYFGIFTTRTSR HIVL in isoform BMAL1E. CuratedAdd BLAST24
Alternative sequenceiVSP_002100302 – 626Missing in isoform BMAL1E. CuratedAdd BLAST325
Alternative sequenceiVSP_002101443 – 526ANVLE…LNITS → SRVDTGHLGQVERCTVLSRP NSRFLIAGMFTEPTSWKAGT QPSHSSQHPPTAWTACCPLE KVAQRGPTPLFQGFQGEPGL GQEK in isoform BMAL1F. CuratedAdd BLAST84
Alternative sequenceiVSP_002102527 – 626Missing in isoform BMAL1F. CuratedAdd BLAST100

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D89722 mRNA Translation: BAA19968.1
AB000812 mRNA Translation: BAA19935.1
AB000813 Genomic DNA Translation: BAA19936.1
AB000814 mRNA Translation: BAA19937.1
AB000815 mRNA Translation: BAA19938.1
AB000816 mRNA Translation: BAA19939.1
U51627 mRNA Translation: AAC51213.1
U60415 mRNA Translation: AAB37248.1
AF044288 mRNA Translation: AAC24353.1
AK095749 mRNA Translation: BAG53120.1
AK291510 mRNA Translation: BAF84199.1
EF015894 Genomic DNA Translation: ABM64205.1
AC016884 Genomic DNA No translation available.
AC022878 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68504.1
CH471064 Genomic DNA Translation: EAW68505.1
CH471064 Genomic DNA Translation: EAW68510.1
CH471064 Genomic DNA Translation: EAW68511.1
CH471064 Genomic DNA Translation: EAW68513.1
BC016674 mRNA Translation: AAH16674.1
BC031214 mRNA Translation: AAH31214.1
BC041129 mRNA Translation: AAH41129.2
CCDSiCCDS31430.1 [O00327-8]
CCDS44543.1 [O00327-9]
CCDS73259.1 [O00327-2]
CCDS76387.1 [O00327-1]
PIRiJC5405
JC5407
PC4288
PC4289
RefSeqiNP_001025443.1, NM_001030272.2 [O00327-8]
NP_001025444.1, NM_001030273.2 [O00327-9]
NP_001169.3, NM_001178.5 [O00327-8]
NP_001284648.1, NM_001297719.1 [O00327-2]
NP_001284651.1, NM_001297722.1 [O00327-2]
NP_001284653.1, NM_001297724.1 [O00327-1]
XP_011518414.1, XM_011520112.2
XP_011518415.1, XM_011520113.1
XP_016873231.1, XM_017017742.1
XP_016873232.1, XM_017017743.1
XP_016873235.1, XM_017017746.1
XP_016873236.1, XM_017017747.1
XP_016873237.1, XM_017017748.1 [O00327-9]
UniGeneiHs.65734

Genome annotation databases

EnsembliENST00000389707; ENSP00000374357; ENSG00000133794 [O00327-8]
ENST00000401424; ENSP00000385915; ENSG00000133794 [O00327-1]
ENST00000403290; ENSP00000384517; ENSG00000133794 [O00327-2]
ENST00000403482; ENSP00000385897; ENSG00000133794 [O00327-7]
ENST00000403510; ENSP00000385581; ENSG00000133794 [O00327-9]
GeneIDi406
KEGGihsa:406
UCSCiuc001mko.4 human [O00327-2]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D89722 mRNA Translation: BAA19968.1
AB000812 mRNA Translation: BAA19935.1
AB000813 Genomic DNA Translation: BAA19936.1
AB000814 mRNA Translation: BAA19937.1
AB000815 mRNA Translation: BAA19938.1
AB000816 mRNA Translation: BAA19939.1
U51627 mRNA Translation: AAC51213.1
U60415 mRNA Translation: AAB37248.1
AF044288 mRNA Translation: AAC24353.1
AK095749 mRNA Translation: BAG53120.1
AK291510 mRNA Translation: BAF84199.1
EF015894 Genomic DNA Translation: ABM64205.1
AC016884 Genomic DNA No translation available.
AC022878 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68504.1
CH471064 Genomic DNA Translation: EAW68505.1
CH471064 Genomic DNA Translation: EAW68510.1
CH471064 Genomic DNA Translation: EAW68511.1
CH471064 Genomic DNA Translation: EAW68513.1
BC016674 mRNA Translation: AAH16674.1
BC031214 mRNA Translation: AAH31214.1
BC041129 mRNA Translation: AAH41129.2
CCDSiCCDS31430.1 [O00327-8]
CCDS44543.1 [O00327-9]
CCDS73259.1 [O00327-2]
CCDS76387.1 [O00327-1]
PIRiJC5405
JC5407
PC4288
PC4289
RefSeqiNP_001025443.1, NM_001030272.2 [O00327-8]
NP_001025444.1, NM_001030273.2 [O00327-9]
NP_001169.3, NM_001178.5 [O00327-8]
NP_001284648.1, NM_001297719.1 [O00327-2]
NP_001284651.1, NM_001297722.1 [O00327-2]
NP_001284653.1, NM_001297724.1 [O00327-1]
XP_011518414.1, XM_011520112.2
XP_011518415.1, XM_011520113.1
XP_016873231.1, XM_017017742.1
XP_016873232.1, XM_017017743.1
XP_016873235.1, XM_017017746.1
XP_016873236.1, XM_017017747.1
XP_016873237.1, XM_017017748.1 [O00327-9]
UniGeneiHs.65734

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4H10X-ray2.40A66-128[»]
ProteinModelPortaliO00327
SMRiO00327
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106899, 61 interactors
ComplexPortaliCPX-3229 CLOCK-BMAL1 transcription complex
DIPiDIP-46008N
IntActiO00327, 13 interactors
MINTiO00327
STRINGi9606.ENSP00000374357

PTM databases

iPTMnetiO00327
PhosphoSitePlusiO00327

Polymorphism and mutation databases

BioMutaiARNTL

Proteomic databases

PaxDbiO00327
PeptideAtlasiO00327
PRIDEiO00327
ProteomicsDBi47841
47842 [O00327-1]
47843 [O00327-3]
47844 [O00327-4]
47845 [O00327-5]
47846 [O00327-6]
47847 [O00327-7]
47848 [O00327-8]
47849 [O00327-9]

Protocols and materials databases

DNASUi406
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000389707; ENSP00000374357; ENSG00000133794 [O00327-8]
ENST00000401424; ENSP00000385915; ENSG00000133794 [O00327-1]
ENST00000403290; ENSP00000384517; ENSG00000133794 [O00327-2]
ENST00000403482; ENSP00000385897; ENSG00000133794 [O00327-7]
ENST00000403510; ENSP00000385581; ENSG00000133794 [O00327-9]
GeneIDi406
KEGGihsa:406
UCSCiuc001mko.4 human [O00327-2]

Organism-specific databases

CTDi406
DisGeNETi406
EuPathDBiHostDB:ENSG00000133794.17
GeneCardsiARNTL
HGNCiHGNC:701 ARNTL
HPAiCAB045962
HPA050938
MIMi602550 gene
neXtProtiNX_O00327
OpenTargetsiENSG00000133794
PharmGKBiPA24996
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3561 Eukaryota
ENOG410XRJI LUCA
GeneTreeiENSGT00760000118788
HOGENOMiHOG000234379
HOVERGENiHBG107503
InParanoidiO00327
KOiK02296
OMAiEKINTNC
OrthoDBiEOG091G126J
PhylomeDBiO00327
TreeFamiTF319983

Enzyme and pathway databases

ReactomeiR-HSA-1368108 BMAL1:CLOCK,NPAS2 activates circadian gene expression
R-HSA-1989781 PPARA activates gene expression
R-HSA-400253 Circadian Clock
SIGNORiO00327

Miscellaneous databases

ChiTaRSiARNTL human
GeneWikiiARNTL
GenomeRNAii406
PROiPR:O00327
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000133794 Expressed in 217 organ(s), highest expression level in left lobe of thyroid gland
ExpressionAtlasiO00327 baseline and differential
GenevisibleiO00327 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
cd00130 PAS, 2 hits
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR001067 Nuc_translocat
IPR001610 PAC
IPR000014 PAS
IPR035965 PAS-like_dom_sf
IPR013767 PAS_fold
PfamiView protein in Pfam
PF00010 HLH, 1 hit
PF00989 PAS, 1 hit
PRINTSiPR00785 NCTRNSLOCATR
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SM00086 PAC, 1 hit
SM00091 PAS, 2 hits
SUPFAMiSSF47459 SSF47459, 1 hit
SSF55785 SSF55785, 3 hits
TIGRFAMsiTIGR00229 sensory_box, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS50112 PAS, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiBMAL1_HUMAN
AccessioniPrimary (citable) accession number: O00327
Secondary accession number(s): A2I2N6
, A8K645, B5ME11, B7WPG7, D3DQW6, O00313, O00314, O00315, O00316, O00317, Q4G136, Q8IUT4, Q99631, Q99649
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: August 15, 2003
Last modified: September 12, 2018
This is version 191 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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